Regulation of the Caenorhabditis elegans longevity protein DAF-16 by insulin/IGF-1 and germline signaling.

abstract：:To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...

journal_title：Nature genetics

authors： DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium.,South Asian Type 2 Diabetes (SAT2D) Consortium.,Mexican American Type 2 Diabetes (MAT2D) Consortium.,

更新日期：2014-03-01 00:00:00

abstract：:Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis, but the molecular hallmarks of tumor hypoxia remain poorly defined. To fill this gap, we quantified hypoxia in 8,006 tumors across 19 tumor types. In ten tumo...

journal_title：Nature genetics

authors： Bhandari V,Hoey C,Liu LY,Lalonde E,Ray J,Livingstone J,Lesurf R,Shiah YJ,Vujcic T,Huang X,Espiritu SMG,Heisler LE,Yousif F,Huang V,Yamaguchi TN,Yao CQ,Sabelnykova VY,Fraser M,Chua MLK,van der Kwast T,Liu SK,Bout

更新日期：2019-02-01 00:00:00

abstract：:Evolutionary theory predicts substantial interspecific and intraspecific differences in the proximal mechanisms of ageing. Our goal here is to seek evidence for common ('public') mechanisms among diverse organisms amenable to genetic analysis. Oxidative damage is a candidate for such a public mechanism of ageing. Long...

journal_title：Nature genetics

authors： Martin GM,Austad SN,Johnson TE

更新日期：1996-05-01 00:00:00

abstract：:Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a hi...

journal_title：Nature genetics

authors： Testa JR,Cheung M,Pei J,Below JE,Tan Y,Sementino E,Cox NJ,Dogan AU,Pass HI,Trusa S,Hesdorffer M,Nasu M,Powers A,Rivera Z,Comertpay S,Tanji M,Gaudino G,Yang H,Carbone M

更新日期：2011-08-28 00:00:00

abstract：:Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...

journal_title：Nature genetics

authors： Noben-Trauth K,Zheng QY,Johnson KR

更新日期：2003-09-01 00:00:00

abstract：:Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...

journal_title：Nature genetics

authors： Castillo-Davis CI,Mekhedov SL,Hartl DL,Koonin EV,Kondrashov FA

更新日期：2002-08-01 00:00:00

abstract：:Down syndrome confers a 20-fold increased risk of B cell acute lymphoblastic leukemia (B-ALL), and polysomy 21 is the most frequent somatic aneuploidy among all B-ALLs. Yet the mechanistic links between chromosome 21 triplication and B-ALL remain undefined. Here we show that germline triplication of only 31 genes orth...

journal_title：Nature genetics

authors： Lane AA,Chapuy B,Lin CY,Tivey T,Li H,Townsend EC,van Bodegom D,Day TA,Wu SC,Liu H,Yoda A,Alexe G,Schinzel AC,Sullivan TJ,Malinge S,Taylor JE,Stegmaier K,Jaffe JD,Bustin M,te Kronnie G,Izraeli S,Harris MH,Steve

更新日期：2014-06-01 00:00:00

abstract：:Comparative genomic analyses of primary tumors and metastases within individuals with pancreatic cancer have exposed the complex clonal dynamics that underlie the dissemination of cancer cells to distant sites. Recent studies implicate non-genetic mechanisms in this process, particularly fluctuations in chromatin stat...

journal_title：Nature genetics

authors： Vakoc CR,Tuveson DA

更新日期：2017-02-24 00:00:00

abstract：:There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...

journal_title：Nature genetics

authors： Qiu W,Hu M,Sridhar A,Opeskin K,Fox S,Shipitsin M,Trivett M,Thompson ER,Ramakrishna M,Gorringe KL,Polyak K,Haviv I,Campbell IG

更新日期：2008-05-01 00:00:00

abstract：:How the human brain rapidly builds up its lipid content during brain growth and maintains its lipids in adulthood has remained elusive. Two new studies show that inactivating mutations in MFSD2A, known to be expressed specifically at the blood-brain barrier, lead to microcephaly, thereby offering a simple and surprisi...

journal_title：Nature genetics

authors： Betsholtz C

更新日期：2015-07-01 00:00:00

abstract：:Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations,...

journal_title：Nature genetics

authors： Lettre G,Hirschhorn JN

更新日期：2015-11-01 00:00:00

abstract：:Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific....

journal_title：Nature genetics

authors： Hiller M,Huse K,Szafranski K,Jahn N,Hampe J,Schreiber S,Backofen R,Platzer M

更新日期：2004-12-01 00:00:00

abstract：:The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...

journal_title：Nature genetics

authors： Okazaki Y,Okuizumi H,Ohsumi T,Nomura O,Takada S,Kamiya M,Sasaki N,Matsuda Y,Nishimura M,Tagaya O,Muramatsu M,Hayashizaki Y

更新日期：1996-05-01 00:00:00

abstract：:Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...

journal_title：Nature genetics

authors： Sanyanusin P,Schimmenti LA,McNoe LA,Ward TA,Pierpont ME,Sullivan MJ,Dobyns WB,Eccles MR

更新日期：1995-04-01 00:00:00

abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

journal_title：Nature genetics

authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

更新日期：2008-01-01 00:00:00

abstract：:Sézary syndrome is a rare leukemic form of cutaneous T cell lymphoma characterized by generalized redness, scaling, itching and increased numbers of circulating atypical T lymphocytes. It is rarely curable, with poor prognosis. Here we present a multiplatform genomic analysis of 37 patients with Sézary syndrome that i...

journal_title：Nature genetics

authors： Wang L,Ni X,Covington KR,Yang BY,Shiu J,Zhang X,Xi L,Meng Q,Langridge T,Drummond J,Donehower LA,Doddapaneni H,Muzny DM,Gibbs RA,Wheeler DA,Duvic M

更新日期：2015-12-01 00:00:00

abstract：:Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming. Here we present, to our knowledge, the first integrated epigenomic analysis of mammalian oocytes, identifying over a thousand CGIs methylated in mature oocytes....

journal_title：Nature genetics

authors： Smallwood SA,Tomizawa S,Krueger F,Ruf N,Carli N,Segonds-Pichon A,Sato S,Hata K,Andrews SR,Kelsey G

更新日期：2011-06-26 00:00:00

abstract：:Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-fre...

journal_title：Nature genetics

authors： Wu C,Miao X,Huang L,Che X,Jiang G,Yu D,Yang X,Cao G,Hu Z,Zhou Y,Zuo C,Wang C,Zhang X,Zhou Y,Yu X,Dai W,Li Z,Shen H,Liu L,Chen Y,Zhang S,Wang X,Zhai K,Chang J,Liu Y,Sun M,Cao W,Gao J,Ma Y,Zheng X

更新日期：2011-12-11 00:00:00

abstract：:Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to ch...

journal_title：Nature genetics

authors： Clark J,Rocques PJ,Crew AJ,Gill S,Shipley J,Chan AM,Gusterson BA,Cooper CS

更新日期：1994-08-01 00:00:00

abstract：:The mammalian homeobox transcription factor CDX2 has key roles in intestinal development and differentiation. Heterozygous Cdx2 mice develop one or two benign hamartomas in the proximal colon, whereas heterozygous Apc(Delta716) mice develop numerous adenomatous polyps, mostly in the small intestine. Here we show that ...

journal_title：Nature genetics

authors： Aoki K,Tamai Y,Horiike S,Oshima M,Taketo MM

更新日期：2003-12-01 00:00:00

abstract：:More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. To assess the power of currently available SNPs to detect such associations, we resequenced 50...

journal_title：Nature genetics

authors： Carlson CS,Eberle MA,Rieder MJ,Smith JD,Kruglyak L,Nickerson DA

更新日期：2003-04-01 00:00:00

abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

journal_title：Nature genetics

authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

更新日期：2012-07-01 00:00:00

abstract：:We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most assoc...

journal_title：Nature genetics

authors： Liu JZ,Almarri MA,Gaffney DJ,Mells GF,Jostins L,Cordell HJ,Ducker SJ,Day DB,Heneghan MA,Neuberger JM,Donaldson PT,Bathgate AJ,Burroughs A,Davies MH,Jones DE,Alexander GJ,Barrett JC,Sandford RN,Anderson CA,UK Primary

更新日期：2012-10-01 00:00:00

abstract：:Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...

journal_title：Nature genetics

authors： Mahdi H,Fisher BA,Källberg H,Plant D,Malmström V,Rönnelid J,Charles P,Ding B,Alfredsson L,Padyukov L,Symmons DP,Venables PJ,Klareskog L,Lundberg K

更新日期：2009-12-01 00:00:00

abstract：:It is generally assumed that the male:female (M:F) ratio in patients with type 1 (insulin-dependent) diabetes mellitus (IDDM) is 1. A recent survey, however, revealed that high incidence countries (mainly European) have a high M:F ratio and low incidence ones (Asian and African) have a low M:F ratio. We have now analy...

journal_title：Nature genetics

authors： Cucca F,Goy JV,Kawaguchi Y,Esposito L,Merriman ME,Wilson AJ,Cordell HJ,Bain SC,Todd JA

更新日期：1998-07-01 00:00:00

abstract：:Enterotoxigenic Escherichia coli (ETEC), a major cause of infectious diarrhea, produce heat-stable and/or heat-labile enterotoxins and at least 25 different colonization factors that target the intestinal mucosa. The genes encoding the enterotoxins and most of the colonization factors are located on plasmids found acr...

journal_title：Nature genetics

authors： von Mentzer A,Connor TR,Wieler LH,Semmler T,Iguchi A,Thomson NR,Rasko DA,Joffre E,Corander J,Pickard D,Wiklund G,Svennerholm AM,Sjöling Å,Dougan G

更新日期：2014-12-01 00:00:00

abstract：:Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...

journal_title：Nature genetics

authors： Hornstein E,Shomron N

更新日期：2006-06-01 00:00:00

abstract：:The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...

journal_title：Nature genetics

authors： Bovee D,Zhou Y,Haugen E,Wu Z,Hayden HS,Gillett W,Tuzun E,Cooper GM,Sampas N,Phelps K,Levy R,Morrison VA,Sprague J,Jewett D,Buckley D,Subramaniam S,Chang J,Smith DR,Olson MV,Eichler EE,Kaul R

更新日期：2008-01-01 00:00:00

abstract：:Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...

journal_title：Nature genetics

authors： Juliana P,Poland J,Huerta-Espino J,Shrestha S,Crossa J,Crespo-Herrera L,Toledo FH,Govindan V,Mondal S,Kumar U,Bhavani S,Singh PK,Randhawa MS,He X,Guzman C,Dreisigacker S,Rouse MN,Jin Y,Pérez-Rodríguez P,Montesinos-L

更新日期：2019-10-01 00:00:00

abstract：:Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly ident...

journal_title：Nature genetics

authors： Lettre G,Jackson AU,Gieger C,Schumacher FR,Berndt SI,Sanna S,Eyheramendy S,Voight BF,Butler JL,Guiducci C,Illig T,Hackett R,Heid IM,Jacobs KB,Lyssenko V,Uda M,Diabetes Genetics Initiative.,FUSION.,KORA.,Prostate, Lu

更新日期：2008-05-01 00:00:00